A854P Summary

SCN5A A854P was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A854P is not present in gnomAD. A854P has been functionally characterized in 0 papers. Other variants at the same resdue are A854D .A854G .A854P .A854S .A854T .A854V . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A854P Predictions

PROVEAN scores less than -2 are considered deleterious. REVEL scores higher than 0.5 or 0.75 is considered likely pathogenic (higher sensitivity with the former cutoff, higher specificity with the latter cutoff). A PolyPhen-2 score of 0.85 or greater is considered likely pathogenic. PAM scores reflect the chemistry difference between WT and variant amino acid (more negative being greater difference between the two). BLAST-PSSM reflects the evolutionary conservation of residue substitutions, more negative numbers indicate fewer observations of the specific substitution than is expected.

SIFT Sift Score PROVEAN Score Polyphen2 Polyphen2 Score eaRate blastPssm pamScore REVEL
NA NA NA NA NA NA NA NA 0.975

A854P has 67 neighbors within 15 ångströms that have been found in individuals.

A residue within a folded protein on average has nearest neighbors that fall roughly into two shells: a "nearest" neighbor around 5-6 angstroms and a second shell around 11 angstroms.

ResidueNumber Distance(Å) Variants
144 13.8
145 11.3
146 13.6 V146A V146M
147 14.8
148 9.7
149 10.4
150 14.5
151 12.4
152 12.3 D152N
217 15
219 13.4 R219C
220 10.7 T220I
221 12.4
222 13.3 R222Q
223 8.8 V223L
224 11.7
226 11.9 A226V
227 13.3 L227P
845 14.3
846 12.1
847 10.1
848 10.5 I848F
849 9.5
850 6.3 V850M
851 5.8 F851L F851L F851L
852 6.3
853 5.7
855 3.9
856 5.6
857 5.3 G857D
858 6 M858L M858L
859 9.6
860 9.9
861 9.8
862 10.8
865 13.4
879 13.6 W879R W879R
880 11.7
881 7.6
882 11.9
883 9.7
884 6.1
885 10
886 10.1 H886P H886Q H886Q
887 4.8
888 6.7
889 9.4
890 7.8 I890T
891 6
892 10.6 F892I
893 13.2 R893C R893H
894 10.8
895 11.9
896 14.8
902 12.7
906 13.4
914 13.8
915 13
918 10.3
919 10.6
921 12.6
922 10.1
923 14.3
925 13.3
926 13.2
1447 13.3
1451 14.8